Canonical Allele Identifier: CA400850210
Community Standard Title: NM_002758.4(MAP2K6):c.171G>C (p.Met57Ile)
Gene: MAP2K6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.69517538G>C , CM000679.2:g.69517538G>C GRCh38
NC_000017.10:g.67513679G>C , CM000679.1:g.67513679G>C GRCh37
NC_000017.9:g.65025274G>C NCBI36
NG_029437.1:g.107842G>C
NG_029437.2:g.107842G>C

Transcript Alleles

HGVS Amino-acid Change
NM_002758.4:c.171G>C MANE Select NP_002749.2:p.Met57Ile
ENST00000590474.7:c.171G>C MANE Select ENSP00000468348.1:p.Met57Ile
NM_001330450.1:c.3G>C NP_001317379.1:p.Met1Ile
NM_001330450.2:c.3G>C NP_001317379.1:p.Met1Ile
NM_002758.3:c.171G>C NP_002749.2:p.Met57Ile
ENST00000359094.7:c.171G>C ENSP00000351997.3:p.Met57Ile
ENST00000586641.5:n.445G>C
ENST00000588110.5:c.180G>C ENSP00000464916.1:p.Met60Ile
ENST00000589295.5:c.3G>C ENSP00000466143.1:p.Met1Ile
ENST00000589647.5:c.3G>C ENSP00000467213.1:p.Met1Ile
ENST00000590474.5:c.171G>C ENSP00000468348.1:p.Met57Ile
ENST00000591445.1:n.487G>C
ENST00000613873.4:c.3G>C ENSP00000477701.1:p.Met1Ile
XM_005257515.1:c.3G>C XP_005257572.1:p.Met1Ile
XM_005257516.1:c.3G>C XP_005257573.1:p.Met1Ile
XM_005257516.2:c.3G>C XP_005257573.1:p.Met1Ile
XM_006721975.2:c.3G>C XP_006722038.1:p.Met1Ile
XM_006721975.3:c.3G>C XP_006722038.1:p.Met1Ile
XM_011525025.1:c.204G>C XP_011523327.1:p.Met68Ile
XM_011525026.1:c.180G>C XP_011523328.1:p.Met60Ile
XM_011525026.2:c.180G>C XP_011523328.1:p.Met60Ile
XM_011525027.1:c.3G>C XP_011523329.1:p.Met1Ile
XM_011525027.3:c.3G>C XP_011523329.1:p.Met1Ile